【摘要】 中枢神经系统(central nervous system, CNS)自身免疫性疾病是一类免疫系统攻击自身神经系统，造成神经系统组织结构和功能损伤的疾病。该类疾病表现复杂多样，遗传易感因素与环境的共同作用可能导致其发病。CNS自身免疫性疾病多为复杂的多基因遗传病，其遗传易感性由多种低外显率的等位基因共同决定的。人类白细胞抗原(Human leukocyte antigen, HLA)与CNS自身免疫性疾病的发病最为相关，一些非HLA基因也参与自身免疫性疾病的发病。不同人种患者的风险基因可能不同。基因检测技术的广泛应用和发展加深了我们对CNS自身免疫性疾病遗传学发病机制的理解。未来，CNS自身免疫性疾病的遗传学研究将不仅仅局限于单纯的基因位点与疾病易感性的相关性，疾病预测和治疗靶点开发将成为CNS自身免疫性疾病遗传研究的热点。更多还原

【Abstract】 Central nervous system(CNS) autoimmune diseases are a kind of diseases in which the immune system attacks autologous nervous system, resulting in structural and functional damage of the nervous system. The manifestations of these diseases are complex and varied. The combination of genetic predisposition and environment factors may lead to the onset of these diseases. CNS autoimmune diseases are mostly complex polygenic diseases Their genetic susceptibility is determined by multiple alleles with low penetrance. Human leukocyte antigen(HLA) is most relevant to the onset of CNS autoimmune diseases. Some non-HLA genes are also involved in the pathogenesis of these diseases. Patients of different races may have different risk genes. The extensive application and development of gene detection technology has deepened our understanding of the genetic pathogenesis of CNS autoimmune diseases. In the future, the genetic research of CNS autoimmune diseases will not be limited to the correlation between simple gene loci and disease susceptibility. The development of disease prediction and treatment targets will become a hot spot in the genetic research of the diseases.更多还原